幾家代表性醫(yī)院檢驗科現(xiàn)開展檢驗項目課件

幾家代表性醫(yī)院

檢驗科現(xiàn)開展檢驗項目幾家代表性醫(yī)院

檢驗科現(xiàn)開展檢驗項目1JohnsHopkinsMedicalLaboratories項目簡介華西醫(yī)院檢驗科項目簡介協(xié)和醫(yī)院檢驗科項目簡介中山達安基因項目簡介腫瘤個體化用藥常用項目簡介我的思考JohnsHopkinsMedicalLaborato2JohnsHopkinsMedicalLaboratories600NorthWolfeStreetMeyerB-130Baltimore,MD21287-7070Phone410-955-2405Fax410-614-0455JohnsHopkinsMedicalLaborato3JHMLServices

BloodDisorders&SpecialCoagulation臨檢和凝血ClinicalChemistry生化Cytokine細胞因子HIVSpecialtyServicesHIV篩查Immunology免疫MedicalMicrobiology醫(yī)學微生物MolecularPathology&Cytogenetics分子病理和細胞基因NeoplasticHematopathology&FlowCytometry血液病理和流式細胞儀TransfusionMedicine血庫JHMLServices

4CardiovascularPanel心血管項目組合

Testabnormalitiesinthispanelcorrelatewithanincreasedriskofcardiovasculardisorders.

FactorVIIActivity

FibrinogenActivity

Homocysteine(specialcollection)

Lipoprotein(a)

PlasminogenActivatorInhibitor-1(PAI-1)

ProthrombinFragment1.2

TissuePlasminogenActivatorAntigenCardiovascularPanel心血管項目組合

5CirculatingAnticoagulantandLupusAnticoagulant循環(huán)抗凝和狼瘡抗凝

Abasicscreeningpanelforfactordeficienciesandthedetectionofinhibitors.

APTT

MixingStudies(APTT)

MixingStudies(PT)

PT(ProthrombinTime)

PlateletNeutralization

d-RVVT,withconfirm

Anti-cardiolipenAntibody,IgG,IgM,IgA

Anti-B2GP1antibodies,IgG,IgM,IgACirculatingAnticoagulantand6AbnormalPTand/orAPTTEvaluation一般凝血檢查

Thispanelisusedtoevaluatethecauseofanabnormalprotimeoractivatedpartialthromboplastintime.

APTT

APTTMixingStudies

Hepzyme(Testforheparincontamination)

PT(ProthrombinTime)

PT(ProthrombinTime)MixingStudies

PlateletNeutralizationAbnormalPTand/orAPTTEvalua7DDAVPChallenge血管加壓素耐受性ThepanelisusedtoevaluatetheresponseofmildhemophiliaandvonWillebranddiseasepatientstoDDAVP.

FactorVIIIActivity

RistocetinCoFactorassay

WFAntigen

HEME-8(pre-post)DDAVPChallenge血管加壓素耐受性8DICScreenDIC篩查

TheDICscreenisusefulinthediagnosisandfollow-upofdisseminatedintravascularcoagulation.

APTT

D-dimer(Quantitative)

Fibrinogen

ProthrombinTimeDICScreenDIC篩查

TheDICscreen9ExtrinsicPathwayPanel外凝血通路組合Panelusedtoevaluateandidentifythecauseofanabnormalprothrombintime.

FactorVIIActivity

FactorXActivity

FactorVActivity

FactorIIActivityExtrinsicPathwayPanel外凝血通路組合10IntrinsicPathwayPanel內(nèi)凝血通路組合Panelcanbeusedtoevaluateandidentifythecauseofanabnormalactivatedpartialthromboplastintime.

FactorXIIActivity

FactorXIActivity

FactorIXActivity

FactorVIIIActivityIntrinsicPathwayPanel內(nèi)凝血通路組11FibrinolysisPanel纖維蛋白溶解組合

Thefibrinolysispanelmaybeusedtomonitorordiagnoseacquiredorcongenitalabnormalitiesofthefibrinolyticsystem.

alpha-2-Antiplasmin

D-dimerQuantitative

FibrinogenDegradationProducts

PlasminogenActivatorInhibitor-1(PAI-1)

PlasminogenActivity

TissuePlasminogenActivatorAntigenFibrinolysisPanel纖維蛋白溶解組合

The12LupusAnticoagulant(AntiphospholipidScreen)狼瘡抗凝(抗磷脂篩查

Abasicscreeningpanelforthedetectionoflupus-likeinhibitors.TheprofilemayalsobeusedforpatientswithanunexplainedprolongedprothrombintimeorAPTT.

AnticardiolipinAntibody(ELISA)

APTTandMixingStudies

D-RVVT(DiluteRussellViperVenom)andMixingStudies

PT(ProthrombinTime)andMixingStudies

PlateletNeutralizationTestifevidenceforaninhibitorLupusAnticoagulant(Antiphosp13PlateletFunctionPanel血小板功能組合

Panelusedtoidentifyplateletfunctionproblems.

PFA-100

BleedingTime

ClotRetraction

PlateletAggregation

PlateletSecretion(ATPrelease)

Flowcytometrystudiesifindicated

ProthrombinConsumptionTestPlateletFunctionPanel血小板功能14ThromboticRiskPanel血栓風險組合

Thethromboticriskpanelisacomprehensivegroupoftestsforevaluatingpatientswithhypercoagulablestates.

ActivatedProteinCResistanceandFactorVLeiden

AntithrombinIIIActivity

DiluteRussell'sViperVenom(D-RVVT)

FibrinogenActivity,FibrinogenAntigen

Homocysteine(specialcollection)

Lipoprotein(a)

LupusAnticoagulantScreen

PlasminogenActivatorInhibitor1(PAI-1)

PlasminogenActivity

CActivity

ProteinCAntigen

ProteinSActivityProteinSAntigenTotal

ThrombinTime

TissuePlasminogenActivatorAntigen

ProthrombinGeneMutationThromboticRiskPanel血栓風險組合

T15ThromboticRiskScreen血栓風險篩檢Agroupofbasictestsusedtoscreenpatientsforonlythemostcommoncausesofthrombosis.

ActivatedProteinCResistance

AntithrombinIIIActivity

D-RVVT

Homocysteine(specialcollection)

ProteinCActivity

ProteinSActivityThromboticRiskScreen血栓風險篩檢16vonWillebrandPanel血管性血友病因子

ThispanelisfortheevaluationofsuspectedvonWillebranddisease.

APTT

FactorVIIIActivity

RistocetinCofactor

vWFAntigen

vWFMultimersasneededvonWillebrandPanel血管性血友病因子

T17MarkersofHyper-Coagulation高凝狀態(tài)標志物Prothrombinfragment1,2

Plasmap-Selectin

Thromboxane

Beta-Thromboglobulin

PF4MiscellaneousBleedingDisorders各種出血紊亂FactorXIIIActivityMarkersofHyper-Coagulation高凝18ProteinTests特種蛋白

CryoglobulinScreenwithreflextoimmunofixationelectrophoresisforpositivesCSFIgGIndexbynephelometryCSFIgG(IgG/TotalProteinas%)Electrophoresis,Protein,serumElectrophoresis,Protein,serumwithimmunoglobulinquantitationsandimmunofixationelectrophoresisElectrophoresis,Protein,24-hoururineorrandomurine:includestotalproteinElectrophoresis,Protein,24-hoururineorrandomurine:includestotalprotein,immunoglobulinquantitationsandimmunofixationelectrophoresisElectrophoresis,BenceJonesProtein,24-hoururineorrandomurineincludestotalproteinandimmunofixationelectrophoresisHaptoglobinbynephelometryIgA,SerumbynephelometryIgG,SerumbynephelometryIgM,SerumbynephelometryPrealbuminbynephelometryProteinTests特種蛋白

Cryoglobuli19AutoimmuneDiseaseTests自身免疫

ANAScreenwithreflextotiterandpatternforpositivesbyIFAC3bynephelometryC4bynephelometryCyclicCitrullinatedPeptide(CCP)IgGbyEIAdsDNAScreenwithreflextotiterforpositivesbyIFAJo-1antibodybyEIAMitochondrialantibodywithreflextotiterforpositivesbyIFAAutoimmuneDiseaseTests自身免疫

A20RheumatoidFactorbynephelometrySclerodermaantibody(Scl-70)byEIASjogren’santibody(SS-A)byEIASjogren’santibody(SS-B)byEIASmantibodybyEIARNPantibodybyEIASmoothMuscleantibodywithreflextotiterforpositivesbyIFARheumatoidFactorbynephelome21InfectiousDiseaseSerologyTests各種傳染病細菌學檢查

Anti-StreptolysinObynephelometryCMVIgGbyEIACMVIgMbyMEIAEBVIgG(EA,VCA,EBNA)byEIAEBVIgMbyIFAHelicobacterpyloriIgGbyEIAHSVIgGbyEIAHSVIgMbyEIALymeDiseasebyEIAwithreflextoWesternBlotforpositiveandequivocalresultsInfectiousDiseaseSerologyTe22MononucleosisScreenbyagglutinationMumpsIgGbyEIARubellaIgGbyMEIARubeolaIgG(measles)byEIASyphilisSerologybyRPRwithreflextotiterandFTAifpositiveToxoplasmaIgGbyMEIAToxoplasmaIgMbyMEIAVZV(Varicellazoster)IgGbyEIAVDRLbymicroflocculationWestNileIgMbyEIAMononucleosisScreenbyagglut23HIV-1p24AntigenTesting(DirectandICD)QualitativeandQuantitativeHIV-1PlasmaandPBMCCultureTestQualitativeDNAPCRTestingQuantitativeHIV-1RNATestingHIV-1p24AntigenTesting(Dir24MolecularDiagnosticsLaboratory

Weprovideamultitudeofclinicaltestingforleukemia,lymphoma,solidtumors,colorectalcancerpredisposition,andhematologicmutations.Leukemia白血病RFLP-Thistestisperformedonbonemarrowtransplant(BMT)patientsandtheirdonorsbeforeBMTtoidentifyaninformativeprobe,andthenafterBMTonthepatienttomonitorthestatusofthegraft.

IgHPCR-ThistestidentifiesB-cellclonalityinleukemiaandlymphoma.

TCR-GammaPCR-ThistestidentifiesT-cellclonalityinleukemiaandlymphoma.

BCR-ABLRT-PCR-Thistestidentifiesthet(9:22)BCR/ablgenetranslocation(Philadelphiachromosome)presentinmorethan99%ofCMLandfrequentlyinall.MolecularDiagnosticsLaborato25Lymphoma淋巴瘤BCL2/IgHPCR-Thistestidentifiesthet(14:18)BCL2/IgHgenetranslocation(majorandminorbreakpointregions)seeninfollicularlymphomaandlargecelllymphoma.Specialtytests特殊檢查APCI1307K-ThistestidentifiesthehereditarypredispositionforcolorectalcancerintheAshkenaziJewishpopulation.Lymphoma淋巴瘤26Leukemia白血病FlowCytometry(PhenotypicCharacterization,ResidualDiseaseDetection)

MorphologyConsultations--BloodandMarrow

Cytogenetics(incollaborationwiththeCytogeneticsLaboratory)

MolecularDiagnostics(incollaborationwiththeMolecularDiagnosticsLaboratory)Lymphoma淋巴瘤FlowCytometry(PhenotypicCharacterization,Staging,ResidualDiseaseDetection,FineNeedleAspirates)

MorphologyConsultations--LymphNodeandotherTissueBiopsies

Immunohistochemistry

Moleculardiagnostics(incollaborationwiththeMolecularDiagnosticLaboratory)SpecialtyTests特殊檢查CD34Counting

PNH(ParoxysmalNocturnalHemoglobinuria)Diagnosis陣發(fā)性睡眠性血紅蛋白尿Leukemia白血病27Bacteriology細菌MolecularMicrobiology分子微生物Mycobacteriology結(jié)核菌Mycology真菌Parasitology寄生蟲Virology病毒Bacteriology細菌28SpecialPathogenDetectionActinomycesspp.:Culture;PCRBordetellapertussis:Culture;

PCRLegionellapneumophila:Culture;Directfluorescentantibody;PCRMycoplasmapneumoniae:PCRMycoplasmahominis/Ureaplasmaurealyticum:CultureBartonellaspp.:Culture;PCRChlamydiapneumoniae:PCRChlamydiatrachomatis:Culture;PCREhrlichia/Anaplasma:PCRBorreliaburgdorferi:Culture;PCRNeisseriagonorrheae:Culture;PCRSpecialPathogenDetection29BacterialIdentification

Gas-liquidchromatographyofglucosemetabolicendproductsforanaerobeidentification.Cellwallfattyacidanalysisforspeciationofnon-fermentingoruncommonisolates.16SribosomalRNAgenesequenceanalysisforidentification.ToxinTestingStaphylococcusaureusPanton-ValentineleukocidinShiga-liketoxins1and2ClostridiumdifficiletoxinbyantigenandcytotoxicmethodsBacterialIdentification30AntibioticSusceptibilityTestingandMonitoringAgardilutionsusceptibilitytesting(MIC)Antibioticbacteriocidaldetermination(MIC/MBC)Antibioticserumactivity(Schlichtertest-MID/MBD)AntibioticsynergytestingAntibioticserumleveldeterminationsMoleculardeterminationofantibioticresistancegenesMethicillinresistance(mecA)Vancomycinresistance(vanA;vanB;vanC)MolecularEpidemiologyPulsed-fieldgelelectrophoresis(PFGE)Restrictionfragment-lengthpolymorphisms(RFLP)AntibioticSusceptibilityTest31Epstein-Barrvirus(EBV)detectionandquantificationbyPCR

ParvovirusB19PCRdetectionBKvirusdetectionandquantificationbyPCRJCvirusdetectionbyPCRCytomegalovirus(CMV)PCRdetectionVaricella-Zostervirus(VZV)PCRdetectionHepatitisCvirus(HCV)quantificationbyPCRHCVgenotypeidentificationbydirectsequencingHepatitisBvirusquantificationbyPCREpstein-Barrvirus(EBV)detec32AdenovirusdetectionbyPCREnterovirusdetectionbyPCRHighRiskHPVdetection(HC-2,Digene)EhrlichiachaffeensisandAnaplasmaphagocytophila(HGEagent)PCRdetectionAtypicalpneumoniapathogendetectionbyPCR(Mycoplasmapneumoniae,Legionellapneumophila,Chlamydiapneumoniae)

Bacterialidentificationby16SribosomalRNAgenesequencingMolecularepidemiologybyPFGEorRFLPStaphylococcusenterotoxinandTSST-1geneandShiga-liketoxingeneidentificationbyPCRBordetellapertussisPCRDetectionAdenovirusdetectionbyPCR33幾家代表性醫(yī)院檢驗科現(xiàn)開展檢驗項目34幾家代表性醫(yī)院檢驗科現(xiàn)開展檢驗項目35MycobacteriologyMycobacteriaspeciesidentificationandsusceptibilitytesting,especiallyforpatientswithmultiplyresistantpathogens,isbeyondtheroutinetestingavailableinmosthospitallaboratories.

TheJohnsHopkinsHospitalMycobacteriologyLaboratoryoffersthefollowingtesting:Culture/smearSpeciationMycobacterialbloodcultureRoutinesusceptibilitytestingforM.tuberculosis

Susceptibilitytestingforselectnon-specificmycobacteriauponrequestPCRforM.tuberculosisfromsmearpositiverespiratory(only)specimens

Mycobacteriology36MycologyMostclinicallaboratoriescanonlyidentifycommonfungi,buttheHospital'sdiversepatientbasegivestheMicrobiologyLaboratoryexperiencetestingforspeciationofunusualorganismsand

forperformingyeastinvitrosusceptibilitytesting.

Fungalidentification(yeast,dimorphics,filamentous)真菌鑒定Cryptococcusantigendetection(隱球菌抗原檢測）Fungalculture（真菌培養(yǎng)）Directmicroscopicexamination（直接鏡檢）KOHCalcofluorwhite（熒光染色，用于鑒別孢子蟲)GiemsaMycology37Yeastinvitrosusceptibilitytesting酵母菌體外藥敏試驗AmphotericinB二性霉素BItraconazole伊曲康唑Voriconazole伏立康唑Fluconazole弗康唑5-fluorocytosine5-弗胞嘧啶Caspofungin卡波芬凈Yeastinvitrosusceptibility38Parasitology

TheMicrobiologyLaboratoryhasextensiveexperiencediagnosingproblemsininternationalpopulationsexposedtounfamiliarparasites,cancerpatientswhoareimmune-suppressed,andHIV-infectedpatientswhoarepronetodevelopunusualinfections.Malariaandotherbloodparasitesdetectionandidentification瘧原蟲和其他血寄生蟲的鑒別CryptosporidiumandIsosporaidentification隱孢子蟲Microsporidiumssp.identification小孢子蟲Pneumocystiscariniiidentification卡氏肺囊蟲Giardialambliaidentification腸蘭伯式鞭毛蟲

Parasitology

39VirologyTheVirologyLaboratorywithintheDivisionofMedicalMicrobiologyusesmanydifferentcelllinesforculture,appliesnewmethodologiesforrapidandearlyidentificationofpathogenicviruses,andperformsviralsusceptibilitydeterminationsrarelyperformedinotherlaboratories.Respiratoryvirus(respiratorysyncytialvirus(RSV),influenzaA,influenzaB,parainfluenzaviruses1-3,adenovirus)rapidantigendetectionandculture呼吸道病毒Herpessimplexculture單純皰疹

Cytomegalovirus(CMV)culture巨細胞病毒

Cytomegalovirus(CMV)culture--earlyantigenCytomegalovirus(CMV)quantificationbyPCRV40Varicella-Zostervirus(VZV)culture水痘-帶狀皰疹病毒Enterovirusculture腸道病毒Adenovirusculture腺病毒OtherViralcultures其他病毒Viralsusceptibility病毒藥敏MolecularVirology(seeMolecularMicrobiology)分子病毒學Varicella-Zostervirus(VZV)c41

華西醫(yī)院檢驗科獨特項目

42游離脂肪酸（Freefattyacids,FFA）

3-甲氧基-4羥基苦杏仁酸（Vanillylmandelicacid,VMA）

抗酒石酸酸性磷酸酶（Tartrateresistantacidphosphatase-5b,TRAP-5b）

人巨細胞病毒載量（HCMVviralload）

沙眼衣原體DNA（CT-DNA）

淋球菌DNA（NG-DNA）

皰疹病毒I、IIDNA（HSVI&II-DNA）

游離脂肪酸（Freefattyacids,FFA）43HLA抗體特異性試驗 （PRA）

HLA抗體篩查試驗(HLAI、IIantibodyscreeningtest)

HLA抗原DNA分型（HLAantigendetection）

HLA抗體特異性試驗 （PRA）44解脲支原體DNA（UU-DNA）

B細胞（CD19CD5）

轉(zhuǎn)鐵蛋白

(Transferrin，TRF)

骨特異性堿性磷酸酶（β-ALP）

T細胞亞群(CD3,CD4,CD8)

α1抗胰蛋白酶(Alpha1-antitrypsin,AAT)

α1酸性糖蛋(Alpha1AcidGlycoprotein)(AAG)

γ干擾素（IFNγ）

解脲支原體DNA（UU-DNA）45免疫固定電泳（ImmunofixationElectrophoresis,IFE）可溶性白細胞介素2受體（sIL-2R）

可溶性細胞凋亡因子配體（sFasL）

可溶性細胞凋亡因子（sFas）

可溶性細胞間粘附分子1（sICAM-1）可溶性細胞間粘附分子3（sICAM-3）

可溶性血管粘附分子1（sVCAM-1）

免疫固定電泳（ImmunofixationElectrop46尿輕鏈定量（κλ）循環(huán)免疫復合物（circulatingimmunecomplex,CIC）

抗凝血酶3(AntithrombinⅢ,AT3)

新碟呤（Neopterin）白細胞介素-2（IL-2）4,6,8,10,12,13結(jié)合珠蛋白(Haptoglobin，HPT)

自然殺傷細胞（NaturalKillerCells,NK）

尿輕鏈定量（κλ）47血管內(nèi)皮生長因子（VEGF）肝纖PCⅢCⅣLNHAMAOFN

ALA*δ-氨基-γ酮戊酸（δ-aminolevulinicacid,ALA）亮氨酰氨基肽酶（leucineaminopeptidase，LAP）

冷球蛋白（cryoglobulinscryo）

酸性磷酸酶（acidphosphatase，ACP）

血管內(nèi)皮生長因子（VEGF）48磷脂（phospholipid，PL）

VWF膠原結(jié)合分析（vWFcollogenbindingassay

）

vWF抗原測定(vWFantigendetermination)

X因子活性測定(factorXactivitydetermination

Ⅱ因子活性測定(factorIIactivitydetermination

磷脂（phospholipid，PL）49Ⅶ因子活性測定(factorVIIactivitydetermination)

Ⅷ因子活性測定(factorVIIIactivitydetermination)Ⅸ因子活性測定(factorIXactivitydetermination)

抗堿血紅蛋白(Alkali-resistanthemoglobin)

血紅蛋白電泳和HbA2測定（hemoglobinelectrophoresisandmensurationforHbA2）

Ⅶ因子活性測定(factorVIIactivity50高鐵血紅蛋白還原試驗(methemoglobinreductiontest)

高鐵血紅蛋白還原試驗(methemoglobinreduc51

北京協(xié)和醫(yī)院檢驗科項目

52達安基因目錄達安基因目錄53美國每年醫(yī)學實驗室檢查70-100億個標本其中TCT2.4億，組織病理6千萬個大于97%癌癥通過組織活檢確診，而不是腫瘤標志物，中華醫(yī)學會檢驗分會腫瘤標志物委員會和美國NIH均有文件明確指出：腫瘤標志物不能用于腫瘤的普查美國每年醫(yī)學實驗室檢查54國家發(fā)改委已明確表示今后醫(yī)療付費模式是按病種付費醫(yī)療機構(gòu)與醫(yī)保部門討價還價的是臨床路徑臨床路徑的實施的結(jié)果是今后大組合和與診斷關(guān)系不大項目肯定萎縮國家發(fā)改委已明確表示今后醫(yī)療付費模式是按病種付費55IOM報告每年醫(yī)療事故：科羅拉多州和猶他州44000例死亡，紐約州98000例死亡每年醫(yī)療事故導致死亡人數(shù)，超過車禍（44000），乳腺癌（43000）和艾滋?。?7000）的總和經(jīng)濟損失美元170-290億IOM報告56質(zhì)量保證是基礎，包括設備/試劑HepatitisBsurfaceantigenmutantdetectiononfourimmunoassayanalysers.ARCHITECTi2000

AXSYM

Elecesys

Vitros

Mutantdetection12/1212/127/126/12Turn-aroundtime30m30m20m38mCalibtationstability28d23d28d28dCostperreportable(us)2.192.381.941.88ThefivediscordantmutantswerePro142-Ser+Gly145-Arg;Gly145-ARG;Asp144-Ala+Gly145-Arg;Thr126-Ser+Gly145-Arg;Pro142-Leu+Gly145-ArgS.L.Saw,etal.NationalUniversityHospitalSingapor質(zhì)量保證是基礎，包括設備/試劑57個體化醫(yī)療核心---分子診斷分子診斷較傳統(tǒng)診斷可以更早診斷疾病個體化醫(yī)療核心---分子診斷58分子診斷

蛋白水平免疫組化流式細胞學免疫熒光/電鏡核酸水平遺傳學原位雜交PCRMicroarray測序分子診斷

蛋白水平59當今有明確應用有乳腺癌：FISH查HER2/NEU淋巴瘤：IgM和T細胞受體基因重排遺傳性非息肉性結(jié)腸癌：肺癌：EGFR腦瘤：1p/19q丟失轉(zhuǎn)移相關(guān)肉瘤PCR診斷微衛(wèi)星不穩(wěn)定性當今有明確應用有60傳統(tǒng)的檢測DNA策略遺傳學（篩查，screening)大插入/缺失，擴增，易位傳統(tǒng)的檢測DNA策略61原位雜交（選擇，selection)大插入/缺失，擴增，易位原位雜交（選擇，selection)大插入/缺失，擴增，易62基于PCR方法突變，小插入/缺失，重復改變，大插入/缺失，擴增，易位基于PCR方法突變，小插入/缺失，重復改變，大插入/缺失，63新的DNA檢測策略微陣列（選擇，selection)不能發(fā)現(xiàn)未知基因新的DNA檢測策略64測序（篩查，screening)不適合發(fā)現(xiàn)插入/缺失，擴增，易位測序（篩查，screening)不適合發(fā)現(xiàn)插入/缺失，擴增65遺傳檢測類型診斷性檢查攜帶者檢查預測性檢查產(chǎn)前檢測和植入前檢查分子靶點：DNA突變，基因組改變，多態(tài)性遺傳檢測66范例FactorVLeiden/凝血酶原（診斷）囊性纖維化?。ㄔ\斷，攜帶者，產(chǎn)前）脊髓型肌萎縮診斷（產(chǎn)前）、攜帶者，連鎖老年性癡呆：微管相關(guān)蛋白tau(MAPT)突變分析UGT1A1多態(tài)性分析（遺傳藥理學）范例67血液學應用診斷微小殘留預后移植前評估和分期（詳見2008WHO腫瘤分類）血液學應用68CDA基因多態(tài)性預測胞嘧啶核苷類似物的治療效果及毒性JAK2突變慢性骨髓增殖性疾?。∕PD）主要的診斷指標BCR-ABL融合基因經(jīng)干擾素、伊馬替尼治療，評價CML預后PML-RARA融合基因經(jīng)全反式維甲酸及三氧化二砷等治療后，評價APL預后AML1-ETO融合基因AML患者預后評價TEL-AML1融合基因預測ALL治療和預后CDA基因多態(tài)性預測胞嘧啶核苷類似物的治療效果及毒性69范例39歲，女急性早幼粒形態(tài)細胞遺傳學和RT-PCR檢測不到PML-RARA融合基因面臨問題：維甲酸治療還是異體基因干細胞移植范例70雙末端二代測序發(fā)現(xiàn)細胞遺傳學沒能檢測到改變，新的融合基因分析耗時7周ATRA治療15個月后病人仍存活雙末端二代測序71實體腫瘤易位肉瘤微衛(wèi)星不穩(wěn)定性遺傳性非息肉性結(jié)直腸癌（HNPCC）K-RAS,EGFR,ALK突變分析BRAC1,BRAC2實體腫瘤72范例78歲，男分化不良的舌乳頭狀腺癌淋巴結(jié)轉(zhuǎn)移化療失敗范例73采用二代測序分析全基因組轉(zhuǎn)錄組發(fā)現(xiàn)RET癌基因上調(diào)PTEN下調(diào)采用二代測序74傳染病應用病原體檢測不能培養(yǎng)極低滴度生長需要復雜營養(yǎng)或生長緩慢培養(yǎng)危險分子診斷快速傳染病應用75身份鑒定法醫(yī)學親子鑒定骨髓移植物分析胎兒標本中產(chǎn)婦污染物的鑒定組織病理中污染和腫瘤來源葡萄胎、絨毛膜疾病檢查身份鑒定76結(jié)核診斷流式細胞儀IFN-γ釋放試驗是用PPD、ESAT-6和CFP-10刺激T細胞，然后用流式細胞儀檢測IFN-γ陽性的CD4T細胞。這種檢測只需要不到一個工作日的時間，可直接從少于1ml全血中檢測，結(jié)果和T-Spot強相關(guān)，比TsT更敏感，特異性高。其步驟如下：在全血中加入PPD、ESAT-6和CFP-10，培養(yǎng)6h，在此過程中CD69上調(diào)且產(chǎn)生了許多細胞因子；然后裂解紅細胞，收集白細胞；用CD4抗體、IFN-γ抗體和CD69抗體染色，最后用流式細胞儀檢測。這種方法和TIGRA的原理一樣，都是用結(jié)核特異性抗原刺激T細胞，然后檢測IFN-γ。它的花費和TIGRA差不多，其優(yōu)勢在于節(jié)省時間（<8h），不需要許多人工操作。結(jié)核診斷流式細胞儀IFN-γ釋放試驗是用PPD、ESAT-677

臨床路徑簡介

78血細胞分析血小板增多持續(xù)>600*109/L大于450*109/L其他檢查血涂片形態(tài)血小板增多，形態(tài)和大小多樣（大小不均），可見巨大血小板和血小板聚集成團、成簇，可見巨核細胞碎片。紅細胞形態(tài)不同程度異常骨髓檢查骨髓細胞形態(tài)貯存鐵骨髓活檢遺傳學和基因檢測血小板成堆成團成簇，巨核細胞成熟障礙，原、幼巨細胞增生明顯，小巨核細胞可見。無MDS證據(jù)，不符合CML、真紅、分應性血小板增多癥外鐵正常巨核細胞增多，無明顯骨髓纖維化特征Ph陰性BCR/ABL融合基因陰性JAK2基因陽性/陰性綜合分析提示原發(fā)性血小板增多癥術(shù)后，尤其脾切除后感染炎癥惡性疾病創(chuàng)傷慢性炎癥失血和缺鐵使用EPO類藥物和（或）化療后反跳ICU重癥反應性血小板增多癥血清鐵蛋白正常，尿酸升高和假高鉀血癥，CRP、Fib、和ESR可正常，出血時間多正常血小板增多癥的分析思路血細胞分析持續(xù)>600*109/L大于450*109/L其他79

中性粒細胞減少癥的分析思路血細胞分析白細胞計數(shù)減低中性粒細胞<1*109/L兩系或全血細胞減少高熱>38℃或感染癥狀提示家族性中性粒細胞減少癥提示感染外周血涂片檢查細胞大小及形態(tài)發(fā)現(xiàn)原始或異常細胞？提示VitB12 /葉酸缺乏癥骨髓檢查中性粒細胞減少細胞形態(tài)是否正常？提示中性粒細胞破壞增加，中性粒細胞消耗增加，感染，外傷，組織壞死，脾亢-AA-HIV-藥物相關(guān)-細胞毒性T細胞-毒素介導的損傷-某些病毒感染-某些分枝桿菌感染-髓細胞發(fā)育不良-PNH排查巨幼細胞貧血、急性白血病、髓細胞發(fā)育不良、淋巴瘤、毛細胞性白血病、腫瘤、骨髓纖維化等血液疾病是否是是是否否否否否1*109/L<中性粒細胞<2*109/L提示藥物誘導性中性粒細胞減少停用可疑藥物，藥物反應是否消失？是否有用藥史？繼發(fā)性中性粒細胞減少癥是是是VitB12、葉酸結(jié)果低？是細菌培養(yǎng)陽性是提示理化損傷是否接觸有毒物質(zhì)？是否有反復感染病史？否是否是否有慢性中性粒細胞減少癥的家族史？慢性炎癥或自身免疫??？否排查先天性，假性中性粒細胞減少癥是是是是否有卵圓形大紅細胞或MCV升高？中性粒細胞減少癥的分析思80謝謝大家!謝謝大家!81幾家代表性醫(yī)院

檢驗科現(xiàn)開展檢驗項目幾家代表性醫(yī)院

檢驗科現(xiàn)開展檢驗項目82JohnsHopkinsMedicalLaboratories項目簡介華西醫(yī)院檢驗科項目簡介協(xié)和醫(yī)院檢驗科項目簡介中山達安基因項目簡介腫瘤個體化用藥常用項目簡介我的思考JohnsHopkinsMedicalLaborato83JohnsHopkinsMedicalLaboratories600NorthWolfeStreetMeyerB-130Baltimore,MD21287-7070Phone410-955-2405Fax410-614-0455JohnsHopkinsMedicalLaborato84JHMLServices

BloodDisorders&SpecialCoagulation臨檢和凝血ClinicalChemistry生化Cytokine細胞因子HIVSpecialtyServicesHIV篩查Immunology免疫MedicalMicrobiology醫(yī)學微生物MolecularPathology&Cytogenetics分子病理和細胞基因NeoplasticHematopathology&FlowCytometry血液病理和流式細胞儀TransfusionMedicine血庫JHMLServices

85CardiovascularPanel心血管項目組合

Testabnormalitiesinthispanelcorrelatewithanincreasedriskofcardiovasculardisorders.

FactorVIIActivity

FibrinogenActivity

Homocysteine(specialcollection)

Lipoprotein(a)

PlasminogenActivatorInhibitor-1(PAI-1)

ProthrombinFragment1.2

TissuePlasminogenActivatorAntigenCardiovascularPanel心血管項目組合

86CirculatingAnticoagulantandLupusAnticoagulant循環(huán)抗凝和狼瘡抗凝

Abasicscreeningpanelforfactordeficienciesandthedetectionofinhibitors.

APTT

MixingStudies(APTT)

MixingStudies(PT)

PT(ProthrombinTime)

PlateletNeutralization

d-RVVT,withconfirm

Anti-cardiolipenAntibody,IgG,IgM,IgA

Anti-B2GP1antibodies,IgG,IgM,IgACirculatingAnticoagulantand87AbnormalPTand/orAPTTEvaluation一般凝血檢查

Thispanelisusedtoevaluatethecauseofanabnormalprotimeoractivatedpartialthromboplastintime.

APTT

APTTMixingStudies

Hepzyme(Testforheparincontamination)

PT(ProthrombinTime)

PT(ProthrombinTime)MixingStudies

PlateletNeutralizationAbnormalPTand/orAPTTEvalua88DDAVPChallenge血管加壓素耐受性ThepanelisusedtoevaluatetheresponseofmildhemophiliaandvonWillebranddiseasepatientstoDDAVP.

FactorVIIIActivity

RistocetinCoFactorassay

WFAntigen

HEME-8(pre-post)DDAVPChallenge血管加壓素耐受性89DICScreenDIC篩查

TheDICscreenisusefulinthediagnosisandfollow-upofdisseminatedintravascularcoagulation.

APTT

D-dimer(Quantitative)

Fibrinogen

ProthrombinTimeDICScreenDIC篩查

TheDICscreen90ExtrinsicPathwayPanel外凝血通路組合Panelusedtoevaluateandidentifythecauseofanabnormalprothrombintime.

FactorVIIActivity

FactorXActivity

FactorVActivity

FactorIIActivityExtrinsicPathwayPanel外凝血通路組合91IntrinsicPathwayPanel內(nèi)凝血通路組合Panelcanbeusedtoevaluateandidentifythecauseofanabnormalactivatedpartialthromboplastintime.

FactorXIIActivity

FactorXIActivity

FactorIXActivity

FactorVIIIActivityIntrinsicPathwayPanel內(nèi)凝血通路組92FibrinolysisPanel纖維蛋白溶解組合

Thefibrinolysispanelmaybeusedtomonitorordiagnoseacquiredorcongenitalabnormalitiesofthefibrinolyticsystem.

alpha-2-Antiplasmin

D-dimerQuantitative

FibrinogenDegradationProducts

PlasminogenActivatorInhibitor-1(PAI-1)

PlasminogenActivity

TissuePlasminogenActivatorAntigenFibrinolysisPanel纖維蛋白溶解組合

The93LupusAnticoagulant(AntiphospholipidScreen)狼瘡抗凝(抗磷脂篩查

Abasicscreeningpanelforthedetectionoflupus-likeinhibitors.TheprofilemayalsobeusedforpatientswithanunexplainedprolongedprothrombintimeorAPTT.

AnticardiolipinAntibody(ELISA)

APTTandMixingStudies

D-RVVT(DiluteRussellViperVenom)andMixingStudies

PT(ProthrombinTime)andMixingStudies

PlateletNeutralizationTestifevidenceforaninhibitorLupusAnticoagulant(Antiphosp94PlateletFunctionPanel血小板功能組合

Panelusedtoidentifyplateletfunctionproblems.

PFA-100

BleedingTime

ClotRetraction

PlateletAggregation

PlateletSecretion(ATPrelease)

Flowcytometrystudiesifindicated

ProthrombinConsumptionTestPlateletFunctionPanel血小板功能95ThromboticRiskPanel血栓風險組合

Thethromboticriskpanelisacomprehensivegroupoftestsforevaluatingpatientswithhypercoagulablestates.

ActivatedProteinCResistanceandFactorVLeiden

AntithrombinIIIActivity

DiluteRussell'sViperVenom(D-RVVT)

FibrinogenActivity,FibrinogenAntigen

Homocysteine(specialcollection)

Lipoprotein(a)

LupusAnticoagulantScreen

PlasminogenActivatorInhibitor1(PAI-1)

PlasminogenActivity

CActivity

ProteinCAntigen

ProteinSActivityProteinSAntigenTotal

ThrombinTime

TissuePlasminogenActivatorAntigen

ProthrombinGeneMutationThromboticRiskPanel血栓風險組合

T96ThromboticRiskScreen血栓風險篩檢Agroupofbasictestsusedtoscreenpatientsforonlythemostcommoncausesofthrombosis.

ActivatedProteinCResistance

AntithrombinIIIActivity

D-RVVT

Homocysteine(specialcollection)

ProteinCActivity

ProteinSActivityThromboticRiskScreen血栓風險篩檢97vonWillebrandPanel血管性血友病因子

ThispanelisfortheevaluationofsuspectedvonWillebranddisease.

APTT

FactorVIIIActivity

RistocetinCofactor

vWFAntigen

vWFMultimersasneededvonWillebrandPanel血管性血友病因子

T98MarkersofHyper-Coagulation高凝狀態(tài)標志物Prothrombinfragment1,2

Plasmap-Selectin

Thromboxane

Beta-Thromboglobulin

PF4MiscellaneousBleedingDisorders各種出血紊亂FactorXIIIActivityMarkersofHyper-Coagulation高凝99ProteinTests特種蛋白

CryoglobulinScreenwithreflextoimmunofixationelectrophoresisforpositivesCSFIgGIndexbynephelometryCSFIgG(IgG/TotalProteinas%)Electrophoresis,Protein,serumElectrophoresis,Protein,serumwithimmunoglobulinquantitationsandimmunofixationelectrophoresisElectrophoresis,Protein,24-hoururineorrandomurine:includestotalproteinElectrophoresis,Protein,24-hoururineorrandomurine:includestotalprotein,immunoglobulinquantitationsandimmunofixationelectrophoresisElectrophoresis,BenceJonesProtein,24-hoururineorrandomurineincludestotalproteinandimmunofixationelectrophoresisHaptoglobinbynephelometryIgA,SerumbynephelometryIgG,SerumbynephelometryIgM,SerumbynephelometryPrealbuminbynephelometryProteinTests特種蛋白

Cryoglobuli100AutoimmuneDiseaseTests自身免疫

ANAScreenwithreflextotiterandpatternforpositivesbyIFAC3bynephelometryC4bynephelometryCyclicCitrullinatedPeptide(CCP)IgGbyEIAdsDNAScreenwithreflextotiterforpositivesbyIFAJo-1antibodybyEIAMitochondrialantibodywithreflextotiterforpositivesbyIFAAutoimmuneDiseaseTests自身免疫

A101RheumatoidFactorbynephelometrySclerodermaantibody(Scl-70)byEIASjogren’santibody(SS-A)byEIASjogren’santibody(SS-B)byEIASmantibodybyEIARNPantibody